Hypertrophic Cardiomyopathy and Beyond- Echo Hawaii 2018 Lawrence Rudski MD FRCPC FACC FASE Professor of Medicine Director, Division of Cardiology and Azrieli Heart Center Jewish General Hospital, McGill University President, Canadian Society of Echocardiography Disclosure: Small holding of GE Stock outside managed portfolio Utility of Echocardiography Diagnosis What is the disease Severity & Prognostication Is it relevant Guiding Therapy treatment and procedures Screening For some conditions 1
HCM PHENOCOPIES HCM/HOCM Amyloidosis Storage Diseases Non-Compaction Athlete s Heart Hypertensive Heart Disease +/- CAD Normal Variant Other causes of SAM without LVH Echo Patterns Dimensions and Thickness and Function Myocardial Appearance Strain Pattern It s all about the MITRAL VALVE Non-echo correlates History, P/E, EKG, bloods Complementary Imaging Modalities Genetics 2
Primary HCM Disorder of myocardium affecting 1:500 adults 30-60% genetically transmitted (mostly AD transmission) Phenotypic, genotypic, intragenic heterogeneity More than 150 mutations affecting 10 genes encoding sarcomeric proteins identified so far. ESC 2014 Guidelines on Diagnosis and Management of HCM 3
HCM Diagnosis Hallmark of Diagnosis is: ASH + SAM But Definition (Cont d) In general, > 15 mm wall thickness genotype-phenotype correlations have shown that virtually any wall thickness (incl. normal range) are compatible with the presence of HCM mutant gene mildly LV thickness should be distinguished from certain extreme expressions of physiologically based athelete s heart 4
Asymmetric Septal Hypertrophy Septal:Posterior wall thickness of 1.3-1.5:1 90% specificity for HCM but not diagnostic Degree and location can vary Extent and Distribution of Hypertrophy B. Maron 4 types of ASH 10% anterior septum alone 20% anterior and posterior septum 52% septum and anterolateral wall 18% ONLY posteroseptal, apical-septal, or anterolateral wall. (may miss my m-mode) 5
Rakowski and Wigle - TGH 6
Does Size Matter? LVH and Sudden Death Spirito NEJM 2000 How do you measure the septum? DUNNO! If look at CT/MRI, no such thing as left or right septum 7
36 mm Mid-ventricular Form 8
Apical Variant Apical Trapping and Apical Infarction 9
Systolic Anterior Motion (SAM) Anterior motion of Mitral leaflets in systole resulting in movement of leaflets into the LVOT and thus impediment to ejection of the stroke volume out the aortic valve. Varying degrees: mild, mod., severe (septal contact for >30% of systole) May result in echo-bright contact point on septum, which rarely can become nidus for IE. SAM AND LVOTO Late Peaking/Dagger Shaped Latent = < 30 mmhg at rest and increasing To > 30 mmhg with Valsalva or standing Manifest = > 30 mmhg at rest 10
SAM - Venturi??? Lift??? Or Drag.. LIFT OR DRAG? If SAM is caused by the Venturi mechanism (LIFT), high flow velocity in the LVOT should be found at SAM onset. If velocity is low at SAM onset, then lifting forces are decreased and drag forces are increased 11
Septal hypertrophy altered angle of attack leaflet drag LVOT obstruction Abnormal Sherrid et al. JACC 2000. Elongated leaflets more LVOT obstruction Sherrid et al. JACC 2000. 12
Hypertrophied papillary muscles obstruct LVOT Sherrid et al. JACC 2000. SAM Beginning at low velocity 13
MR or LVOT Flow LVOT is Late vs. Early Peaking LVOT is Later onset LVOT is Lower Velocity TIPS: Get MR first & Ensure Good alignment Compared with the previous study, the gradient is higher/lower/similar????? 14
Gradients: Not always the same day in and day out! Resting Gradient Provoked with NTG Kilbash et al. Circulation 1998 Not All Dynamic LVOT Obstruction Is Due to HCM! If LV systolic function becomes hyperdynamic in patient with basal septal hypertrophy, LVOT becomes obstructed in dynamic fashion and behaves the same as HOCM Elderly hypertensives Granny SAM Post-op intravascular depletion + inotropes (esp in patients post AVR for AS, or post MV repair with long anterior leaflet) Initial presentation of amyloidosis Acute LVOT obstruction: acute ant-apical MI (esp if preexisting basal hypertrophy) w/ compensatory hyperdynamic motion of inf-basal wall SAM TAKOTSUBO 15
MR in HCM Schwammenthal E Circ 1998 Don t Forget the RV 16
ESC guidelines 2014 1/10/2018 Screening q12 months in adolescence and q5 years during adulthood MRI in HCM 17
LGE ventricular insertion points, mid-inferior wall Predicted 5-year event rates relative to LGE by % left ventricular mass for risk of end-stage HCM with systolic dysfunction, sudden cardiac death events, and total mortality. Chan R H et al. Circulation. 2014;130:484-495 18
LV Wall Thickness LA size Maximum LVOT gradient 19
Cardiac Amyloidosis LVH with speckled pattern Biatrial Enlargement Restrictive Filling/ Low e Pericardial Effusion Atrial Septal Thickening Thickened valves 1. KISS Principle AUC 0.91 Remember that Amyloidosis and Aortic Stenosis are both diseases of the Elderly 20
J Am Soc Echocardiography 2014:27:888-95 LV Non-Compaction Left ventricular noncompaction (LVNC) is a cardiomyopathy characterized by prominent left ventricular trabeculae and deep intertrabecular recesses To be distinguished from (How?) LV hypertrabeculation often seen in normal MRI required as echo insufficiently sensitive or specific but remember, MRI TRUTH 21
LV Non-Compaction Left ventricular noncompaction (LVNC) is a cardiomyopathy characterized by prominent left ventricular trabeculae and deep intertrabecular recesses To be distinguished from (How?) LV hyper-trabeculation often seen in normal MRI required as echo insufficiently sensitive or specific but remember, MRI TRUTH Left Ventricular Trabeculations in Athletes Mar 26, 2015 Sabiha Gati, MBBS; Sanjay Sharma, MD Expert Analysis http://www.acc.org/latest-in-cardiology/articles/2015/03/26/07/47/left-ventricular-trabeculations-in-athletes First one I ever saw at my center. 22
Contrast is Key 23
How About This Guy? 64 year old with CVA and mild hypertension Which of these has Fabry s? Courtesy Dr. F. Weidemann 24
LV Hypertrophy Correlation with Enzyme and Screening in LVH/HCM Populations Linhart et al. AHJ 2001 Prototypical Fabry Courtesy of Joerg Strottman 25
Myocardial Fibrosis 50% of patients display fibrosis assessed by MRI late enhancement Moon/Elliott et al. Eur Heart J 2003 midmyocardial fibrosis + LVH transmural fibrosis + regional LV-thinning Athlete s Heart vs HCM Copyright 2005 BMJ Publishing Group Ltd. Maron, B J Heart 2005;91:1380-1382 26
Summary HCM presents in numerous forms Echo is primary imaging modality for diagnosis and prognosis but complementary imaging AND CLINICAL/SEROLOGIC/BIOCHEMICAL correlated Contrast and Strain Imaging Helpful Keep a broad differential diagnosis as many mimickers including NORMALS 27